Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs72646846 | 0.925 | 0.160 | 2 | 178589849 | stop gained | G/A | snv | 7.6E-05 | 6.3E-05 | 4 | |
rs563762318 | 10 | 110831154 | missense variant | G/A | snv | 2.8E-04 | 6.3E-05 | 1 | |||
rs138592977 | 1.000 | 0.040 | 1 | 156135968 | missense variant | G/A | snv | 5.6E-05 | 6.3E-05 | 3 | |
rs397517497 | 1.000 | 0.120 | 2 | 178790707 | splice donor variant | C/T | snv | 4.8E-05 | 5.6E-05 | 2 | |
rs397517735 | 0.925 | 0.160 | 2 | 178559309 | splice donor variant | A/T | snv | 4.4E-06 | 4.9E-05 | 4 | |
rs574660186 | 0.807 | 0.200 | 2 | 178579702 | stop gained | G/A;C | snv | 1.6E-05 | 3.5E-05 | 7 | |
rs753988867 | 1 | 156137180 | missense variant | C/T | snv | 2.1E-05 | 3.5E-05 | 1 | |||
rs727504851 | 0.925 | 0.160 | 2 | 178613159 | splice donor variant | A/- | del | 1.6E-05 | 2.8E-05 | 3 | |
rs140614802 | 0.851 | 0.040 | 14 | 104741231 | missense variant | G/A | snv | 3.4E-05 | 2.8E-05 | 10 | |
rs199473076 | 0.925 | 0.120 | 3 | 38609950 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 3 | |
rs397517776 | 0.925 | 0.160 | 2 | 178539765 | frameshift variant | CT/- | del | 2.1E-05 | 3 | ||
rs754428169 | 0.925 | 0.120 | 15 | 29761670 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 3 | |
rs730881097 | 1 | 201363352 | missense variant | C/A | snv | 8.0E-06 | 2.1E-05 | 1 | |||
rs140743001 | 1.000 | 0.040 | 2 | 178630250 | stop gained | G/A | snv | 8.1E-06 | 1.4E-05 | 2 | |
rs727504499 | 2 | 178632294 | stop gained | G/A | snv | 1.4E-05 | 1 | ||||
rs748369265 | 2 | 178601788 | splice acceptor variant | C/T | snv | 9.3E-05 | 1.4E-05 | 1 | |||
rs727505284 | 0.925 | 0.160 | 2 | 178565416 | stop gained | G/A | snv | 8.0E-06 | 1.4E-05 | 3 | |
rs397517244 | 10 | 74072792 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |||
rs869312054 | 2 | 178593566 | splice donor variant | A/G | snv | 1.4E-05 | 2 | ||||
rs377491278 | 14 | 23427773 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 1 | |||
rs397516784 | 0.925 | 0.080 | 6 | 118558957 | inframe deletion | AGA/- | delins | 1.4E-05 | 4 | ||
rs104894655 | 0.925 | 0.120 | 17 | 39665762 | stop gained | C/T | snv | 1.4E-05 | 3 | ||
rs267607578 | 0.925 | 0.120 | 1 | 156136952 | missense variant | G/A;C | snv | 1.4E-05 | 3 | ||
rs758537946 | 18 | 31531044 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 1 | |||
rs756433029 | 2 | 178777235 | frameshift variant | TTTCA/- | delins | 8.0E-06 | 1.4E-05 | 1 |